✦ LIBER ✦

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

✍ Scribed by Brent L. Fogel; Ji Yong Lee; Jessica Lane; Amanda Wahnich; Sandy Chan; Alden Huang; Greg E. Osborn; Eric Klein; Catherine Mamah; Susan Perlman; Daniel H. Geschwind; Giovanni Coppola

Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 844 KB
Volume: 27
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.24064

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Background:

Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.

Methods:

Patients with adult‐onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.

Results:

We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.

Conclusions:

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